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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
150644729
C
A
KCNH2
c.2930G>T
p.Cys977Phe
.
chr7
94043239
C
G
COL1A2
c.1645C>G
p.Pro549Ala
rs42524
chr7
94041375
TATAGGGTCTTCCTGGTTCCCCTGGAA
T
COL1A2
c.1351-4_1372delATAGGGTCTTCCTGGTTCCCCTGGAA
p.Gly451fs
.
chr7
83037731
C
G
SEMA3E
c.623G>C
p.Arg208Pro
rs61729612
chr7
73814749
G
C
CLIP2
c.2930G>C
p.Arg977Pro
rs2522943
chr7
55229255
G
A
EGFR
c.1562G>A
p.Arg521Lys
rs2227983
chr7
42088222
T
C
GLI3
c.547A>G
p.Thr183Ala
rs846266
chr7
42005678
G
A
GLI3
c.2993C>T
p.Pro998Leu
rs929387
chr7
27135314
C
T
HOXA1
c.218G>A
p.Arg73His
rs10951154
chr7
2552881
AGATG
A
LFNG
c.163_166delGATG
p.Asp55fs
rs61564232
chr6
110107517
T
C
FIG4
c.1961T>C
p.Val654Ala
rs9885672
chr6
85473758
C
T
TBX18
c.142G>A
p.Gly48Arg
rs172562
chr6
57055354
C
T
RAB23
c.619G>A
p.Gly207Ser
rs1040461
chr6
7580958
A
G
DSP
c.4535A>G
p.Tyr1512Cys
rs2076299
chr6
7542148
C
CA
DSP
c.1dupA
p.Met1fs
rs17133512
chr6
1612017
A
ACGG
FOXC1
c.1359_1361dupCGG
p.Gly454dup
rs398123612
chr6
1611802
G
GGGC
FOXC1
c.1139_1141dupGCG
p.Gly380dup
rs398123611
chr5
179201847
G
A
MAML1
c.3020G>A
p.Ser1007Asn
rs6895902
chr5
140503237
A
G
PCDHB4
c.1657A>G
p.Thr553Ala
rs246669
chr5
140502344
C
T
PCDHB4
c.764C>T
p.Pro255Leu
rs3733697